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Gene information for ASL (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID435
Official gene symbolASL
Full nameargininosuccinate lyase
Aliases,ASAL,
Gene summaryThis gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq]
LocationChromosome: 7   Locus: 7cen-q11.2
Gene position65540776 - 65558330  Map Viewer
Gene orientationplus
Gene size17555 bp
Gene sequence
OMIM ID608310